Boaz Palterer
A5088204078- Immunodeficiency and Autoimmune Disorders
- Inflammatory Myopathies and Dermatomyositis
- Blood disorders and treatments
- Immune Cell Function and Interaction
- Systemic Lupus Erythematosus Research
- T-cell and B-cell Immunology
- Monoclonal and Polyclonal Antibodies Research
- Systemic Sclerosis and Related Diseases
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Eosinophilic Disorders and Syndromes
- Rheumatoid Arthritis Research and Therapies
- Pneumocystis jirovecii pneumonia detection and treatment
- CAR-T cell therapy research
- Chronic Lymphocytic Leukemia Research
- COVID-19 Clinical Research Studies
- Sarcoidosis and Beryllium Toxicity Research
- Cytomegalovirus and herpesvirus research
- Celiac Disease Research and Management
- Dermatological and Skeletal Disorders
- Vasculitis and related conditions
- CRISPR and Genetic Engineering
- SARS-CoV-2 and COVID-19 Research
- Kawasaki Disease and Coronary Complications
- Peripheral Neuropathies and Disorders
- Hypertrophic osteoarthropathy and related conditions
National Institute of Allergy and Infectious Diseases
2022-2025
National Institutes of Health
2022-2025
University of Florence
2015-2024
Azienda Ospedaliero-Universitaria Careggi
2016-2024
Boston Children's Hospital
2024
Harvard University
2024
Immune Deficiency Foundation
2022
Flinders Medical Centre
2022
University of Exeter
2022
Children's Hospital of Pittsburgh
2022
We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αβ counts at birth persisted over time, normal memory and high γδ counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue development. Only a minority of these individuals were sick, infection, lymphoproliferation, and/or autoimmunity. also report 1 in 4000 from the Middle East South...
FMS-related tyrosine kinase 3 ligand (FLT3L), encoded by FLT3LG, is a hematopoietic factor essential for the development of natural killer (NK) cells, B and dendritic cells (DCs) in mice. We describe three humans homozygous loss-of-function FLT3LG variant with history various recurrent infections, including severe cutaneous warts. The patients' bone marrow (BM) was hypoplastic, low levels progenitors, particularly myeloid cell precursors. Counts monocytes, DCs were blood, whereas other blood...
Abstract Even if omalizumab is broadly used in the treatment of severe, allergic asthma, immunological effects long‐term treated patients have not been fully elucidated. To this aim, a cohort 15 asthmatic with for at least three years was compared 12 asthma standard therapy. Omalizumab showed lower frequencies circulating plasmacytoid DCs, and CD154 expression on CD4 T‐helper cells than control group. Moreover, basophils DCs from omalizumab‐treated had surface IgE to In longitudinal...
Abstract The identification of anti-NXP2 antibodies is considered a serological marker dermatomyositis (DM), with calcinosis, severe myositis and, in some reports, cancer. Historically, these associations have been detected by immunoprecipitation (IP), but the last few years commercial immunoblotting assays released. aim this collaborative project was to analyse clinical features associated antibodies, both line blot (LB) and IP. Myositis-specific myositis-associated autoantibodies were...
ABSTRACT Common variable immunodeficiency (CVID) represents an “umbrella” diagnosis due to its clinical and immunological heterogeneity. The primary objective of this study was describe a cohort CVID pediatric subjects from clinical, immunological, genetic viewpoints. Secondary, we propose model for prioritizing investigations in these patients. Thirty‐four patients with followed at Meyer Children's Hospital, IRCSS, were enrolled. Whole exome sequencing performed according the latest...
Myositis specific antibodies (MSA) represent not only important diagnostic tools for idiopathic inflammatory myopathies (IIM), but also help to stratify patients into subsets with particular clinical features, treatment responses, and disease outcome. Consequently, standardization of MSA is high importance. Although many laboratories rely on protein immunoprecipitation (IP) the detection MSA, IP challenging therefore reliable alternatives are mandatory. Recently, we identified significant...
The association between MPO-ANCA-associated vasculitis (AAV) and interstitial lung disease (ILD) has been well established. Pulmonary fibrosis may coexist with, follow, or even precede the diagnosis of AAV, its presence adversely affects prognosis. optimal approach to investigating ANCA in patients with ILD remains a subject ongoing debate. Here we aim describe presentation progression MPO-ANCA ILD. We conducted retrospective evaluation cohort individuals diagnosed ILD, without accompanying...
Abstract Recombination-activating genes (RAG1 and RAG2) are critical for lymphoid cell development function by initiating the variable (V), diversity (D), joining (J) (V(D)J)-recombination process to generate polyclonal lymphocytes with broad antigen specificity. The clinical manifestations of defective RAG1/2 range from immune dysregulation severe combined immunodeficiencies (SCIDs), causing life-threatening infections death early in life without hematopoietic transplantation (HCT). Despite...
Infants with biallelic IL7R loss-of-function variants have severe combined immune deficiency (SCID) characterized by the absence of autologous T lymphocytes, but normal counts circulating B and NK cells (T-B+NK+ SCID). We report 6 adults (aged 22 to 59 years) from 4 kindreds 3 ancestries (Colombian, Israeli Arab, Japanese) carrying homozygous IL7 resulting in immunodeficiency (CID). Deep immunophenotyping revealed relatively and/or proportions myeloid, B, NK, innate lymphoid cells. By...
Statin-associated autoimmune myopathy is a rare muscle disorder, characterized by autoantibodies against HMGCR. The anti-HMGCR persists after statin, and often requires immunosuppressive therapy. However, there not standardized therapeutic approach. purpose of this study to report the effectiveness treatment employed in multi-center multi-disciplinary cohort patients affected myopathy, which an immunoglobulin (IVIG)-based strategy was applied. We collected 16 consecutive with diagnosis...
The identification of mature T cell neoplasms by flow cytometry is often challenging, due to overlapping features with reactive cells and limitations currently available clonality assays. description an antibody specific for one two mutually exclusive receptor (TCR) β-chain constant regions (TRBC1) provides opportunity facilitate the detection clonal TCRαβ+ based on TRBC-restriction. Here we prospectively analyzed 14 healthy controls 63 patients protocol used suspected neoplasm implemented...
Abstract Objectives RA is a chronic inflammatory disease in which possible interstitial lung (ILD) an extra-articular manifestation that carries significant morbidity and mortality. RF ACPA are included the classification criteria but prognostic diagnostic biomarkers for endotyping RA-ILD lacking. Anti-protein arginine deiminase antibodies (anti-PAD) novel class of autoantibodies identified RA. This study aimed to assess clinical features, anti-PAD patients with articular involvement ILD....